Varaico: Literature-Extracted Genetic Variants

HCN1

326 papers

RefSeq Summary

The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize o...

Pfam Domains

Ion_trans_Naa 98–141UCSCIon transport protein N-terminal

Ion_transaa 142–405UCSCIon transport protein

cNMP_bindingaa 493–576UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

hyperpolarization activated cyclic nucleotide gated potassium channel 1

HGNC Previous Symbol

BCNG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021072.4

p.T171I

c.512C>T

Surrounding Variants

5 papers

NM_021072.4

p.T171R

c.512C>G

3 papers

NM_021072.4

p.T172P

c.514A>C

1 paper

NM_021072.4

p.P174S

c.520C>T

1 paper

NM_021072.4

p.I176V

c.526A>G

1 paper

NM_021072.4

p.I177V

c.529A>G

1 paper

NM_021072.4

p.F178L

c.534C>G

1 paper

NM_021072.4

p.N179Y

c.535A>T

1 paper

NM_021072.4

p.G163A

c.488G>C

1 paper

NM_021072.4

p.G163E

c.488G>A

1 paper

NM_021072.4

p.A181A

c.543A>T

1 paper

NM_021072.4

p.I160V

c.478A>G

1 paper

NM_021072.4

p.D183A

c.548A>C